ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.605G>A (p.Arg202Gln)

gnomAD frequency: 0.00004  dbSNP: rs372461120
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001349267 SCV001543602 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2023-12-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 202 of the PSTPIP1 protein (p.Arg202Gln). This variant is present in population databases (rs372461120, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with PSTPIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1044940). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PSTPIP1 protein function with a negative predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CeGaT Center for Human Genetics Tuebingen RCV003399137 SCV004137430 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing PSTPIP1: BP4, BS1

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